Clinical, radiological, and genetic classifications of 113 cases of malformations of cortical development (MCD) were evaluated at the Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands. Diagnosis was confirmed retrospectively in 48 patients during a 10-year period, and prospectively in 65 during only 4 years. Increased alertness or improved brain imaging might have accounted for the more recent higher prevalence of diagnosis of MCD. Disorders of proliferation (eg. congenital microcephalies) occurred in 11, disorders of migration (lissencephaly/heterotopia) in 51, disorders of cortical organization (eg schizencephaly) in 49, and MCD secondary to inborn errors of metabolism in 2. An etiologic diagnosis was established in 45 (40%) cases. In 21 patients (19%) molecular and/or genetic confirmation was established (eg. Miller-Dieker syndrome, inborn error of metabolism). Genetic defect was unknown in 17 (15%). A gestational insult had occurred in 7 (6%). In 34 of the remaining 68 patients, a genetic disorder was suspected based on multiple anomalies, family history, or consanguinity. More definitive diagnosis of MCD would lead to improved patient care and genetic counseling, .
COMMENT. See Sarnat HB. In Progress in Pediatric Neurology III, Chicago, PNB, 1997;365-9; and Norman MG et al. Congenital Malformations of the Brain. New York, Oxford University Press, 1995;452 pages, for excellent reviews of MCD advances.